Table 1. Clinical Summary of Patients.

	Younger child (II.4)	Older child (II.2)
Microcephaly	+	+
Plagiocephaly		+
Feeding difficulties	+	+
Proximal weakness	+	+
Epilepsy (absence, myoclonic, drop attacks)	+
Strabismus		+
MRI brain	Normal	Abnormal
CK	4233 U/L	4505 U/L

Clinical summary of two affected siblings (II.2 and II.4), showing similarities in clinical features like microcephaly and elevated CK levels, yet difference in brain MRI and epilepsies. Abbreviations, CK: creatine kinase.